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Mental retardation syndrome affecting mostly males. The phenotype is variable, combining gynecomastia, obesity, speech disability, hypogonadism, and small feet.

X-Linked Mental Retardation Syndromic 6; X-Linked Mental Retardation with Gynecomastia and Obesity.

Very rare syndrome; X-linked recessive inheritance.

Probable developmental anomaly of the central nervous system, dysfunction of the hypothalamic pituitary-gonadal axis, with secondary rather than primary gonadal insufficiency. Principal features are mental retardation, obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Many other signs have been occasionally described.

Obesity can make venous access, direct laryngoscopy and tracheal intubation difficult.

Gedeon A, Mulley J, Turner G: Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585). Am J Med Genet 64:80, 1996.  [PubMed: 8826454]
Wilson M, Mulley J, Gedeon A, et al: New X-linked syndrome of mental retardation, gynecomastia and obesity is linked to DXS255. Am J Med Genet 40:406, 1991.  [PubMed: 1746601]

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